The role of functional polymorphisms of the TNF-α gene promoter in the risk of ischemic stroke in Chinese Han and Uyghur populations: Two case–control studies

Abstract Background Increasing evidences for the role of tumor necrosis factor-α (TNF-α) in the occurrence of ischemic stroke (IS) have shown that it belongs to pro-inflammatory cytokines and carries functional polymorphisms (TNF-α −238G/A and TNF-α −308G/A) in its promoter region, which affect their transcription rate and plasma cytokine level. We determined the association between these polymorphisms and the occurrence of IS in the Chinese Han and Uyghur populations. Methods The TNF-α −238G/A and TNF-α −308G/A polymorphisms were determined by TaqMan SNP Genotyping assays in cases ( n  = 748) and controls ( n  = 748). Multivariate logistic regression analysis was used to show the association between the TNF-α genotypes and the IS events. Results No significant difference was found in the association between TNF-α −238G/A and IS in both ethnic populations. The result showed that carriage of the TNF-α −308GA was a decreased risk of IS in both Han and Uyghur populations (OR:0.453, 0.213). In addition, the significant difference in GA frequency in TNF-α was found between the two ethnic controls ( P  = 0.000). Conclusions TNF-α −308 GA heterozygous may be an independent protective factor for IS in the Chinese Han and Uyghur populations.